Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn). [electronic resource]
Producer: 19930408Description: 49-58 p. digitalISSN:- 0022-2275
- Alleles
- Amino Acid Sequence
- Base Sequence
- Corneal Opacity -- genetics
- DNA -- genetics
- DNA Probes
- Humans
- Lecithin Cholesterol Acyltransferase Deficiency -- blood
- Lipids -- blood
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Phosphatidylcholine-Sterol O-Acyltransferase -- genetics
- Point Mutation
- Proteinuria -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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